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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: X-30724124-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=30724124&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 30724124,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001437590.1",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.1525T>C",
"hgvs_p": "p.Trp509Arg",
"transcript": "NM_001205019.2",
"protein_id": "NP_001191948.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 559,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000427190.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001205019.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.1525T>C",
"hgvs_p": "p.Trp509Arg",
"transcript": "ENST00000427190.6",
"protein_id": "ENSP00000401720.2",
"transcript_support_level": 5,
"aa_start": 509,
"aa_end": null,
"aa_length": 559,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001205019.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427190.6"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Trp503Arg",
"transcript": "ENST00000378943.7",
"protein_id": "ENSP00000368226.3",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 553,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378943.7"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.1525T>C",
"hgvs_p": "p.Trp509Arg",
"transcript": "ENST00000378946.7",
"protein_id": "ENSP00000368229.3",
"transcript_support_level": 1,
"aa_start": 509,
"aa_end": null,
"aa_length": 530,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378946.7"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Trp503Arg",
"transcript": "ENST00000378945.7",
"protein_id": "ENSP00000368228.3",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 524,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378945.7"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.1609T>C",
"hgvs_p": "p.Trp537Arg",
"transcript": "ENST00000896893.1",
"protein_id": "ENSP00000566952.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 587,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896893.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.1591T>C",
"hgvs_p": "p.Trp531Arg",
"transcript": "NM_001437590.1",
"protein_id": "NP_001424519.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 581,
"cds_start": 1591,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437590.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.1591T>C",
"hgvs_p": "p.Trp531Arg",
"transcript": "ENST00000692461.1",
"protein_id": "ENSP00000509378.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 581,
"cds_start": 1591,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692461.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.1609T>C",
"hgvs_p": "p.Trp537Arg",
"transcript": "ENST00000896884.1",
"protein_id": "ENSP00000566943.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 558,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896884.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.1525T>C",
"hgvs_p": "p.Trp509Arg",
"transcript": "ENST00000896888.1",
"protein_id": "ENSP00000566947.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 558,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896888.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Trp503Arg",
"transcript": "NM_001128127.3",
"protein_id": "NP_001121599.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 553,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128127.3"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.1591T>C",
"hgvs_p": "p.Trp531Arg",
"transcript": "NM_001399987.1",
"protein_id": "NP_001386916.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 552,
"cds_start": 1591,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399987.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.1591T>C",
"hgvs_p": "p.Trp531Arg",
"transcript": "ENST00000896883.1",
"protein_id": "ENSP00000566942.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 552,
"cds_start": 1591,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896883.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Trp503Arg",
"transcript": "ENST00000896891.1",
"protein_id": "ENSP00000566950.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 552,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896891.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.1591T>C",
"hgvs_p": "p.Trp531Arg",
"transcript": "ENST00000896892.1",
"protein_id": "ENSP00000566951.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 551,
"cds_start": 1591,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896892.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.1579T>C",
"hgvs_p": "p.Trp527Arg",
"transcript": "ENST00000896887.1",
"protein_id": "ENSP00000566946.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 548,
"cds_start": 1579,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896887.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.1474T>C",
"hgvs_p": "p.Trp492Arg",
"transcript": "ENST00000929978.1",
"protein_id": "ENSP00000600037.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 542,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929978.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.1456T>C",
"hgvs_p": "p.Trp486Arg",
"transcript": "ENST00000929977.1",
"protein_id": "ENSP00000600036.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 536,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929977.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.1525T>C",
"hgvs_p": "p.Trp509Arg",
"transcript": "NM_203391.4",
"protein_id": "NP_976325.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 530,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203391.4"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.1525T>C",
"hgvs_p": "p.Trp509Arg",
"transcript": "ENST00000896890.1",
"protein_id": "ENSP00000566949.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 529,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896890.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Trp503Arg",
"transcript": "NM_000167.6",
"protein_id": "NP_000158.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 524,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000167.6"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GK",
"gene_hgnc_id": 4289,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Trp503Arg",
"transcript": "ENST00000896885.1",
"protein_id": "ENSP00000566944.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 523,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001437590.1",
"gene_symbol": "GK",
"hgnc_id": 4289,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AR",
"hgvs_c": "c.1591T>C",
"hgvs_p": "p.Trp531Arg"
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000464659.1",
"gene_symbol": "GK-AS1",
"hgnc_id": 40255,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.51A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn glycerol kinase deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Inborn glycerol kinase deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}